| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs1060500931 | 0.925 | 0.120 | 16 | 2064302 | stop gained | C/T | snv | 2 | |||
| rs1064794132 | 1.000 | 0.120 | 9 | 132903649 | splice donor variant | A/T | snv | 2 | |||
| rs1114167462 | 1.000 | 0.120 | 16 | 2062533 | stop gained | C/T | snv | 2 | |||
| rs113488022 | 0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 | 490 | ||
| rs1174984399 | 1.000 | 0.120 | 3 | 138714505 | missense variant | G/A | snv | 4.0E-06 | 7.0E-06 | 1 | |
| rs118203434 | 0.925 | 0.120 | 9 | 132921367 | stop gained | G/A | snv | 3 | |||
| rs118203542 | 0.851 | 0.200 | 9 | 132906053 | stop gained | G/A | snv | 4 | |||
| rs118203631 | 0.851 | 0.200 | 9 | 132903785 | stop gained | G/A | snv | 4 | |||
| rs118203673 | 0.925 | 0.160 | 9 | 132902703 | stop gained | G/A | snv | 2 | |||
| rs121913377 | 0.354 | 0.840 | 7 | 140753335 | missense variant | CA/AT;TT | mnv | 480 | |||
| rs1301051974 | 0.925 | 0.120 | 9 | 132905820 | synonymous variant | A/G | snv | 4.0E-06 | 3 | ||
| rs137854052 | 1.000 | 0.120 | 16 | 2058765 | frameshift variant | -/C | delins | 1 | |||
| rs137854106 | 1.000 | 0.120 | 16 | 2079357 | frameshift variant | A/- | delins | 1 | |||
| rs137854218 | 0.925 | 0.120 | 16 | 2088293 | inframe insertion | CATCAAGCGGCTCCGCCA/-;CATCAAGCGGCTCCGCCACATCAAGCGGCTCCGCCA | delins | 3 | |||
| rs137854329 | 1.000 | 0.120 | 16 | 2085238 | frameshift variant | -/T | delins | 1 | |||
| rs138742347 | 1.000 | 0.120 | 1 | 9722244 | splice region variant | C/T | snv | 5.8E-04 | 2.5E-03 | 1 | |
| rs1430119276 | 1.000 | 0.120 | 16 | 2079096 | missense variant | G/T | snv | 7.0E-06 | 1 | ||
| rs1459518095 | 1.000 | 0.120 | 16 | 2084552 | missense variant | C/G;T | snv | 4.2E-06 | 1 | ||
| rs148838884 | 1.000 | 0.120 | 1 | 9722067 | synonymous variant | C/T | snv | 4.4E-05 | 5.6E-05 | 1 | |
| rs1554815914 | 1.000 | 0.120 | 9 | 132905874 | frameshift variant | TCCCGCA/GC | delins | 1 | |||
| rs1567533189 | 0.925 | 0.160 | 16 | 2086283 | frameshift variant | AAGGACTGCCA/- | del | 2 | |||
| rs185159716 | 1.000 | 0.120 | 9 | 132906751 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 1 | |
| rs28934872 | 0.851 | 0.200 | 16 | 2070571 | missense variant | G/A | snv | 5 | |||
| rs376285784 | 1.000 | 0.120 | 16 | 2064342 | missense variant | G/A | snv | 1.2E-05 | 2.1E-05 | 2 | |
| rs397514914 | 1.000 | 0.120 | 16 | 2071534 | missense variant | C/T | snv | 2 |